| Interacting proteins: Q9UGJ0 and P54646 |
Pubmed |
SVM Score :0.0 |
| We also show that NDPK A specifically binds AMPK alpha 1 and AMPK gamma 2 subunits , thereby specifying the isozyme of AMPK heterotrimer that associates with CFTR at the membrane . ^^^ |
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| Interacting proteins: Q9UGJ0 and P54646 |
Pubmed |
SVM Score :0.0 |
| Molecular cloning , genomic organization , and mapping of PRKAG 2 , a heart abundant gamma 2 subunit of 5 ' AMP activated protein kinase , to human chromosome 7q36 . 5 ' AMP activated protein kinase ( AMPK ) acts as a major regulator of cellular ATP levels and protects cells against stresses that cause ATP depletion . ^^^ This cDNA ( tentatively termed PRKAG 2 b ) is identical to a recently reported cDNA ( tentatively termed PRKAG 2 a ) of human AMPK gamma subunits except in their 5 ' end regions , suggesting that these two cDNAs are two different transcripts of the same gene . ^^^ |
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| Interacting proteins: Q9UGJ0 and P54646 |
Pubmed |
SVM Score :0.0 |
| We now describe mutations in PRKAG 2 , encoding the gamma ( 2 ) subunit of AMP activated protein kinase ( AMPK ) , in two families with severe HCM and aberrant conduction from atria to ventricles in some affected individuals ( pre excitation or Wolff Parkinson White syndrome ) . ^^^ |
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| Interacting proteins: Q9UGJ0 and P54646 |
Pubmed |
SVM Score :0.0 |
| CONCLUSIONS : We identified a novel mutation ( Arg531Gly ) in the gamma 2 regulatory subunit ( PRKAG 2 ) of AMP activated protein kinase ( AMPK ) to be responsible for a syndrome associated with ventricular preexcitation and early onset of atrial fibrillation and conduction disease . ^^^ |
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| Interacting proteins: Q9UGJ0 and P54646 |
Pubmed |
SVM Score :0.0 |
| The cardiac phenotype observed in humans harbouring genetic mutations in the gamma 2 regulatory subunit ( PRKAG 2 ) of AMPK is consistent with abnormal glycogen accumulation in the heart . ^^^ The perturbation of AMPK activity induced by genetic mutations in PRKAG 2 and the resultant effect on muscle cell glucose metabolism may be relevant to the issue of targeting AMPK in drug development for insulin resistant diabetes mellitus . . ^^^ |
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| Interacting proteins: Q9UGJ0 and P54646 |
Pubmed |
SVM Score :0.0 |
| BACKGROUND : Some PRKAG 2 mutations in the human gene encoding for the gamma subunit of the adenosine monophosphate activated protein kinase ( AMPK ) recently have been shown to cause rhythm disturbances ( often fatal ) in affected patients . ^^^ CONCLUSIONS : We propose that sodium channels may be substrates for AMPK , possibly contributing to the observed arrhythmogenic activity in patients with some PRKAG 2 mutations . . ^^^ |
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| Interacting proteins: Q9UGJ0 and P54646 |
Pubmed |
SVM Score :0.0 |
| We have recently shown that HCM associated with Wolff Parkinson White syndrome ( WPW ) and conduction disease can be caused by mutations in PRKAG 2 , which encodes the gamma 2 subunit of AMPK , an enzyme central to cellular energy homeostasis . ^^^ These results indicate that HCM with WPW is a distinct , but genetically heterogeneous , condition caused by mutations in PRKAG 2 and in an unknown gene or genes , not involved in the AMPK complex . ^^^ As deleterious alleles were not found in other AMPK subunit isoforms , the mutations affecting PRKAG 2 are likely to confer a specific alteration of AMPK function of particular importance in the myocardium . . ^^^ |
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| Interacting proteins: Q9UGJ0 and P54646 |
Pubmed |
SVM Score :0.0 |
| PRKAA 1 mapped to BTA 20 , PRKAA 2 and PRKAB 2 to BTA 3 , PRKAB 1 to BTA 17 , PRKAG 1 to BTA 5 , PRKAG 2 to BTA 4 , and PRKAG 3 to BTA 2 . ^^^ |
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| Interacting proteins: Q9UGJ0 and P54646 |
Pubmed |
SVM Score :0.0 |
| BACKGROUND : We identified a gene ( PRKAG 2 ) that encodes the gamma 2 regulatory subunit of AMP activated protein kinase ( AMPK ) with a mutation ( Arg302Gln ) responsible for familial Wolff Parkinson White ( WPW ) syndrome . ^^^ |
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| Interacting proteins: Q9UGJ0 and P54646 |
Pubmed |
SVM Score :0.0 |
| OBJECTIVES : The aim of this study was to investigate the clinical expression of adenosine monophosphate activated protein kinase ( AMPK ) gene mutations ( PRKAG 2 ) in adenosine monophosphate ( AMP ) kinase disease based on 12 years follow up of known mutation carriers and to define the prevalence of PRKAG 2 mutations in hypertrophic cardiomyopathy ( HCM ) . ^^^ |
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| Interacting proteins: Q9UGJ0 and P54646 |
Pubmed |
SVM Score :0.0 |
| Increased alpha 2 subunit associated AMPK activity and PRKAG 2 cardiomyopathy . ^^^ BACKGROUND : AMP activated protein kinase ( AMPK ) regulatory gamma 2 subunit ( PRKAG 2 ) mutations cause a human cardiomyopathy with cardiac hypertrophy , preexcitation , and glycogen deposition . ^^^ Two alpha subunit isoforms , alpha 1 and alpha 2 , are expressed in the heart ; however , the contribution of AMPK utilization of these subunits to PRKAG 2 cardiomyopathy is unknown . ^^^ CONCLUSIONS : The PRKAG 2 N488I mutation causes inappropriate AMPK activation , which leads to glycogen accumulation and conduction system disease . ^^^ Because the dominant negative alpha 2 subunit attenuates the mutant PRKAG 2 phenotype , AMPK complexes containing the alpha 2 rather than the alpha 1 subunit are the primary mediators of the effects of PRKAG 2 mutations . . ^^^ |
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| Interacting proteins: Q9UGJ0 and P54646 |
Pubmed |
SVM Score :0.0 |
| NA |
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| Interacting proteins: Q9UGJ0 and P54646 |
Pubmed |
SVM Score :0.0 |
| NA |
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| Interacting proteins: Q9UGJ0 and P54646 |
Pubmed |
SVM Score :0.0 |
| NA |
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